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Fusion gene ID: 33441 |
FusionGeneSummary for SF3A1_PEA15 |
Fusion gene summary |
Fusion gene information | Fusion gene name: SF3A1_PEA15 | Fusion gene ID: 33441 | Hgene | Tgene | Gene symbol | SF3A1 | PEA15 | Gene ID | 10291 | 8682 |
Gene name | splicing factor 3a subunit 1 | proliferation and apoptosis adaptor protein 15 | |
Synonyms | PRP21|PRPF21|SAP114|SF3A120 | HMAT1|HUMMAT1H|MAT1|MAT1H|PEA-15|PED|PED-PEA15|PED/PEA15 | |
Cytomap | 22q12.2 | 1q23.2 | |
Type of gene | protein-coding | protein-coding | |
Description | splicing factor 3A subunit 1SAP 114pre-mRNA processing 21pre-mRNA splicing factor SF3a (120 kDa subunit)spliceosome-associated protein 114splicing factor 3 subunit 1splicing factor 3a, subunit 1, 120kDsplicing factor 3a, subunit 1, 120kDa | astrocytic phosphoprotein PEA-1515 kDa phosphoprotein enriched in astrocyteshomolog of mouse MAT-1 oncogenemammary transforming gene 1, mouse, homolog ofphosphoprotein enriched in astrocytes 15phosphoprotein enriched in diabetesproliferation and apo | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | Q15459 | Q15121 | |
Ensembl transtripts involved in fusion gene | ENST00000215793, ENST00000439242, | ENST00000360472, ENST00000368077, ENST00000368076, ENST00000488858, | |
Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 3 X 3 X 1=9 |
# samples | 4 | 4 | |
** MAII score | log2(4/18*10)=1.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(4/9*10)=2.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: SF3A1 [Title/Abstract] AND PEA15 [Title/Abstract] AND fusion [Title/Abstract] | ||
Functional or gene categories assigned by FusionGDB annotation |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | SF3A1 | GO:0000398 | mRNA splicing, via spliceosome | 10882114 |
Tgene | PEA15 | GO:0046325 | negative regulation of glucose import | 9670003 |
Tgene | PEA15 | GO:1902042 | negative regulation of extrinsic apoptotic signaling pathway via death domain receptors | 10442631 |
Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS3.1 | BU620654 | SF3A1 | chr22 | 30730670 | + | PEA15 | chr1 | 160183461 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
intron-3UTR | ENST00000215793 | ENST00000360472 | SF3A1 | chr22 | 30730670 | + | PEA15 | chr1 | 160183461 | - |
intron-3UTR | ENST00000215793 | ENST00000368077 | SF3A1 | chr22 | 30730670 | + | PEA15 | chr1 | 160183461 | - |
intron-3UTR | ENST00000215793 | ENST00000368076 | SF3A1 | chr22 | 30730670 | + | PEA15 | chr1 | 160183461 | - |
intron-3UTR | ENST00000215793 | ENST00000488858 | SF3A1 | chr22 | 30730670 | + | PEA15 | chr1 | 160183461 | - |
intron-3UTR | ENST00000439242 | ENST00000360472 | SF3A1 | chr22 | 30730670 | + | PEA15 | chr1 | 160183461 | - |
intron-3UTR | ENST00000439242 | ENST00000368077 | SF3A1 | chr22 | 30730670 | + | PEA15 | chr1 | 160183461 | - |
intron-3UTR | ENST00000439242 | ENST00000368076 | SF3A1 | chr22 | 30730670 | + | PEA15 | chr1 | 160183461 | - |
intron-3UTR | ENST00000439242 | ENST00000488858 | SF3A1 | chr22 | 30730670 | + | PEA15 | chr1 | 160183461 | - |
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FusionProtFeatures for SF3A1_PEA15 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
SF3A1 | PEA15 |
Subunit of the splicing factor SF3A required for 'A'complex assembly formed by the stable binding of U2 snRNP to thebranchpoint sequence (BPS) in pre-mRNA. Sequence independentbinding of SF3A/SF3B complex upstream of the branch site isessential, it may anchor U2 snRNP to the pre-mRNA. May also beinvolved in the assembly of the 'E' complex. | Blocks Ras-mediated inhibition of integrin activationand modulates the ERK MAP kinase cascade. Inhibits RPS6KA3activities by retaining it in the cytoplasm (By similarity).Inhibits both TNFRSF6- and TNFRSF1A-mediated CASP8 activity andapoptosis. Regulates glucose transport by controlling both thecontent of SLC2A1 glucose transporters on the plasma membrane andthe insulin-dependent trafficking of SLC2A4 from the cell interiorto the surface. {ECO:0000250, ECO:0000269|PubMed:10442631,ECO:0000269|PubMed:9670003}. |
Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at . * Minus value of BPloci means that the break pointn is located before the CDS. |
- In-frame and retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for SF3A1_PEA15 |
For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
* Fusion transcript sequences (only coding sequence (CDS) region). |
* Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for SF3A1_PEA15 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for SF3A1_PEA15 |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for SF3A1_PEA15 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | PEA15 | C0036341 | Schizophrenia | 1 | PSYGENET |
Tgene | PEA15 | C0041696 | Unipolar Depression | 1 | PSYGENET |
Tgene | PEA15 | C1269683 | Major Depressive Disorder | 1 | PSYGENET |